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1.
Eur J Vasc Endovasc Surg ; 66(3): 332-341, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37245796

RESUMEN

OBJECTIVE: Acute type B aortic dissection (ATBD) is a rare yet serious cardiovascular event that potentially has an impact on health related quality of life (HRQoL). However, long term follow up data on this topic are scarce. This study aimed to review the long term HRQoL among patients treated for ATBD. METHODS: In this multicentre, cross sectional survey study, consecutive treated patients with ATBD between 2007 and 2017 in four referral centres in the Netherlands were retrospectively included and baseline data were collected. Between 2019 and 2021 the 36 Item Short Form Survey (SF-36) was sent to all surviving patients (n = 263) and was compared with validated SF-36 scores in the Dutch general population stratified by age and sex. RESULTS: In total, 144 of 263 surviving patients completed the SF-36 (response rate 55%). Median (IQR) age was 68 (61, 76) years at completion of the questionnaire, and 40% (n = 58) were female. Initial treatment was medical in 55% (n = 79), endovascular in 41% (n = 59), and surgical in 4% (n = 6) of ATBD patients. Median follow up time was 6.1 (range 1.7-13.9; IQR 4.0, 9.0) years. Compared with the general population, patients scored significantly worse on six of eight SF-36 subdomains, particularly physical domains. Apart from bodily pain, there were no substantial differences in HRQoL between male and female ATBD patients. Compared with sex matched normative data, females scored significantly worse on five of eight subdomains, whereas males scored significantly lower on six subdomains. Younger patients aged 41-60 years seemed more severely impaired in HRQoL compared with the age matched general population. Treatment strategy did not influence HRQoL outcomes. Follow up time was associated with better Physical and Mental Component Summary scores. CONCLUSION: Long term HRQoL was impaired in ATBD patients compared with the Dutch general population, especially regarding physical status. This warrants more attention for HRQoL during clinical follow up. Rehabilitation programmes including exercise and physical support might improve HRQoL and increase patients' health understanding.


Asunto(s)
Disección Aórtica , Calidad de Vida , Humanos , Masculino , Femenino , Estudios Transversales , Estudios Retrospectivos , Encuestas y Cuestionarios , Disección Aórtica/cirugía
2.
Genet Med ; 24(10): 2112-2122, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-36053285

RESUMEN

PURPOSE: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies. METHODS: Index patients and relatives with a P/LP variant in ACTA2 were included. Data were collected through retrospective review of medical records using a standardized questionnaire. RESULTS: A total of 49 individuals from 28 families participated in our study. In total, 20 different ACTA2 variants were detected. Aortic events occurred in 65% of the cases (78.6% index patients and 47.6% relatives). Male sex and hypertension emerged as significantly associated with aortic events. Of 20 individuals, 5 had an aortic diameter of <45 mm (1.77 inches) at the time of the type A dissection. Mean age at first aortic event was 49.0 ± 12.4 years. Severe surgical complications for type A and type B dissection occurred in 25% and 16.7% of the cases and in-hospital mortality rates were 9.5% and 0%, respectively. CONCLUSION: P/LP ACTA2 variants are associated with an increased risk for an aortic event and age-related penetrance, which emphasizes the importance of early recognition of the disease. Caregivers should be aware of the risk for aortic dissections, even in individuals with aortic diameters within the normal range.


Asunto(s)
Aneurisma de la Aorta Torácica , Disección Aórtica , Actinas/genética , Adulto , Disección Aórtica/genética , Aorta , Aneurisma de la Aorta Torácica/epidemiología , Aneurisma de la Aorta Torácica/genética , Estudios de Cohortes , Humanos , Masculino , Persona de Mediana Edad , Mutación
3.
J Nucl Cardiol ; 29(6): 2938-2948, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-34708302

RESUMEN

BACKGROUND: To diagnose abnormal 18F-Fluorodeoxyglucose (18F-FDG) uptake in suspected endocarditis after aortic root and/or ascending aorta prosthesis (ARAP) implantation, it is important to first establish the normal periprosthetic uptake on positron emission tomography with computed tomography (PET/CT). METHODS: Patients with uncomplicated ARAP implantation were prospectively included and underwent 18F-FDG-PET/CT at either 12 (± 2) weeks (group 1) or 52 (± 8) weeks (group 2) after procedure. Uptake on three different locations of the prosthesis ("cranial anastomosis (CA)," "prosthetic heart valve (PHV)," "ascending aorta prosthesis (AAP)") was scored visually (none/low/intermediate/high) and quantitatively (maximum standardized uptake value (SUVmax) and target-to-background ratio (SUVratio). RESULTS: In total, 20 patients (group 1: n = 10, group 2: n = 10) (mean age 64±7 years, 70% male) were included. Both groups had similar visual uptake intensity for all measured areas (CA: mostly low-intermediate (16/20 (80%)), p = .17; PHV: low-intermediate (16/20 (80%)), p = .88; AAP: low-intermediate (19/20 (95%)), p = .48). SUVmax for CA was 5.6 [4.1-6.1] and 3.8 [3.1-5.9] (median [IQR], p = .19), and around PHV 5.0 [4.1-5.7] and 6.3 [4.6-7.1] (p = .11) for groups 1 and 2, respectively. SUVratio for CA was 2.8 [2.3-3.2] and 2.0 [1.7-2.6] (median [IQR], p = .07) and around PHV 2.5 [2.4-2.8] and 2.9 [2.3-3.5] (median [IQR], p = .26) for groups 1 and 2, respectively. CONCLUSION: No significant differences were observed between PET/CT findings at 3 months and 1 year after ARAP implantation, warranting caution in interpretation of PET/CT in the first year after implantation.


Asunto(s)
Fluorodesoxiglucosa F18 , Implantación de Prótesis de Válvulas Cardíacas , Humanos , Masculino , Persona de Mediana Edad , Anciano , Femenino , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Aorta Torácica , Radiofármacos , Tomografía de Emisión de Positrones
4.
J Cardiothorac Vasc Anesth ; 36(4): 1029-1039, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-34518103

RESUMEN

OBJECTIVES: To determine the impact of a rotational thromboelastometry (ROTEM)-guided transfusion protocol on the use of blood products, patient outcomes, coagulation factor concentrates, and costs. DESIGN: A single-center retrospective cohort study. SETTING: A tertiary university hospital. PATIENTS: Adults undergoing proximal aortic surgery with deep hypothermic circulatory arrest. INTERVENTION: ROTEM-guided transfusion protocol compared with clinically-guided transfusion. MEASUREMENTS AND MAIN RESULTS: Two hundred seventeen patients were included; seventy-one elective and 24 emergency patients in the clinically-guided group, and 59 elective and 63 emergency patients in the ROTEM-guided transfusion protocol group. In the ROTEM-guided transfusion protocol group, a significant reduction in transfusion of red blood cells (5 [3-8] v 2 [0-4], p < 0.001), platelet concentrate (2 [2-3] v 1 [1-2], p < 0.001), and plasma (1,980 mL [1,320-3,300] v 800 mL [0-1,000], p < 0.001) was seen in elective surgery. Emergency patients received fewer red blood cells (7 [5-10] v 5 [2-10], p = 0.040), platelet concentrate (3 [2-4] v 2 [2-3], p = 0.023), and plasma (3,140 mL [1,980-3,960] v 1,000 mL [0-1,400], p < 0.001). Prothrombin complex concentrate and fibrinogen concentrate were increased significantly in elective and emergency patients. The surgical reexploration for bleeding rate was decreased in elective patients 33.8% v 5.1%. CONCLUSION: The implementation of a ROTEM-guided transfusion protocol might have the potential to decrease blood product transfusion and may improve patient outcomes.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Tromboelastografía , Transfusión Sanguínea/métodos , Paro Circulatorio Inducido por Hipotermia Profunda/efectos adversos , Humanos , Estudios Retrospectivos , Tromboelastografía/métodos
5.
J Card Surg ; 37(12): 5379-5387, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36378895

RESUMEN

OBJECTIVES: New temperature management concepts of moderate and mild hypothermic circulatory arrest during aortic arch surgery have gained weight over profound cooling. Comparisons of all temperature levels have rarely been performed. We performed direct and indirect comparisons of deep hypothermic circulatory arrest (DHCA) (≤20°C), moderate hypothermic circulatory arrest (MHCA) (20.1-25°C), and mild hypothermic circulatory arrest (mild HCA) (≥25.1°C) in a network meta-analysis. METHODS: The literature was systematically searched for all papers published through February 2022 reporting on clinical outcomes after aortic arch surgery utilizing DHCA, MHCA and mild HCA. The primary outcome was operative mortality. The secondary outcomes were postoperative stroke and acute kidney failure (AKI). RESULTS: A total of 34 studies were included, with a total of 12,370 patients. DHCA was associated with significantly higher postoperative incidence of stroke when compared with MHCA (odds ratio [OR], 1.46, 95% confidence interval [CI], 1.19-1.78) and mild HCA: (OR, 1.50, 95% CI, 1.14-1.98). Furthermore, DHCA and MHCA were associated with higher operative mortality when compared with mild HCA (OR 1.71, 95% CI, 1.23-2.39 and OR 1.50, 95% CI, 1.12-2.00, respectively). Separate analysis of randomized and propensity score matched studies showed sustained increased risk of stroke with DHCA in contrast to MHCA and mild HCA (OR, 1.61, 95% CI, 1.18-2.20, p value = .0029 and OR, 1.74, 95% CI, 1.09-2.77, p value = .019). CONCLUSIONS: In the included studies, the moderate to mild hypothermia strategies were associated with decreased operative mortality and the risk of postoperative stroke. Large-scale prospective studies are warranted to further explore appropriate temperature management for the treatment of aortic arch pathologies.


Asunto(s)
Aneurisma de la Aorta Torácica , Accidente Cerebrovascular , Humanos , Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/cirugía , Resultado del Tratamiento , Temperatura , Metaanálisis en Red , Estudios Retrospectivos , Paro Circulatorio Inducido por Hipotermia Profunda , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Accidente Cerebrovascular/prevención & control , Circulación Cerebrovascular , Perfusión/efectos adversos
6.
J Card Surg ; 36(9): 3271-3280, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34159641

RESUMEN

BACKGROUND: There is a clinical need for additional remote tools to improve left ventricular assist device (LVAD) patient management. The aim of this pilot concept study was to assess the safety and feasibility of optimizing patient management with add-on remote hemodynamic monitoring using the CardioMEMS in LVAD patients during different treatment stages. METHODS: Ten consecutive patients accepted and clinically ready for (semi-) elective HeartMate 3 LVAD surgery were included. All patients received a CardioMEMS to optimize filling pressure before surgery. Patients were categorized into those with normal mean pulmonary artery pressure (mPAP) (≤25 mmHg, n = 4) or elevated mPAP (>25 mmHg, n = 6), and compared to a historical cohort (n = 20). Endpoints were CardioMEMS device safety and a combined endpoint of all-cause mortality, acute kidney injury, renal replacement therapy and/or right ventricular failure at 1-year follow-up. Additionally, we investigated hospital-free survival and improvement in quality of life (QoL) and exercise tolerance. RESULTS: No safety issues or signal interferences were observed. The combined endpoint occurred in 60% of historical controls, 0% in normal and 83% in elevated mPAP group. Post-discharge, the hospital-free survival was significantly better, and the QoL improved more in the normal compared to the elevated mPAP group. CONCLUSION: Remote hemodynamic monitoring in LVAD patients is safe and feasible with the CardioMEMS, which could be used to identify patients at elevated risk of complications as well as optimize patient management remotely during the out-patient phase with less frequent hospitalizations. Larger pivotal studies are warranted to test the hypothesis generated from this concept study.


Asunto(s)
Insuficiencia Cardíaca , Corazón Auxiliar , Monitorización Hemodinámica , Cuidados Posteriores , Estudios de Factibilidad , Insuficiencia Cardíaca/terapia , Hemodinámica , Humanos , Alta del Paciente , Arteria Pulmonar , Calidad de Vida
7.
Int J Mol Sci ; 23(1)2021 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-35008861

RESUMEN

Thoracic aortic aneurysm is a potentially life-threatening disease with a strong genetic contribution. Despite identification of multiple genes involved in aneurysm formation, little is known about the specific underlying mechanisms that drive the pathological changes in the aortic wall. The aim of our study was to unravel the molecular mechanisms underlying aneurysm formation in Marfan syndrome (MFS). We collected aortic wall samples from FBN1 variant-positive MFS patients (n = 6) and healthy donor hearts (n = 5). Messenger RNA (mRNA) expression levels were measured by RNA sequencing and compared between MFS patients and controls, and between haploinsufficient (HI) and dominant negative (DN) FBN1 variants. Immunohistochemical staining, proteomics and cellular respiration experiments were used to confirm our findings. FBN1 mRNA expression levels were highly variable in MFS patients and did not significantly differ from controls. Moreover, we did not identify a distinctive TGF-ß gene expression signature in MFS patients. On the contrary, differential gene and protein expression analysis, as well as vascular smooth muscle cell respiration measurements, pointed toward inflammation and mitochondrial dysfunction. Our findings confirm that inflammatory and mitochondrial pathways play important roles in the pathophysiological processes underlying MFS-related aortic disease, providing new therapeutic options.


Asunto(s)
Enfermedades de la Aorta/genética , Genómica , Síndrome de Marfan/genética , Adulto , Animales , Aorta/metabolismo , Aorta/patología , Enfermedades de la Aorta/patología , Respiración de la Célula , Femenino , Fibrilina-1/metabolismo , Perfilación de la Expresión Génica , Regulación de la Expresión Génica , Humanos , Masculino , Síndrome de Marfan/patología , Músculo Liso Vascular/patología , Miocitos del Músculo Liso/metabolismo , Miocitos del Músculo Liso/patología , Transducción de Señal , Factor de Crecimiento Transformador beta/metabolismo
8.
J Card Surg ; 35(2): 367-374, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31816120

RESUMEN

BACKGROUND: Consensus on the best treatment for aortic arch pathology is unresolved due to an emerging variety of procedures. We aimed to compare the outcomes of two major techniques for open aortic arch replacement involving the supra-aortic branches and to identify the risk factors for specific adverse events. METHODS: Between 1974 and 2017, 172 patients were treated with either the en bloc (island, n = 59; 34.3%) or branched graft technique (n = 113, 65.7%). Most of the patients were treated in an emergent/urgent setting (52.4%). RESULTS: Patients who underwent the en bloc procedure had significantly shorter cardiopulmonary bypass (median: 241 vs 271 minutes, P = .041) and aortic cross clamp times (median: 124 vs 168 minutes, P = .005) than patients who underwent the separate graft technique. Overall, the hospital mortality was lower in the en bloc group, 8.5% vs 19.5%, although the difference was not significant (P = .077). No difference was found in the survival between the separate graft and en bloc groups at 1 (77.0 vs 86.3%), 5 (67.7 vs 66.3%) and 10 years (42.4 vs 51.3%), (P = .63). The postoperative stroke rate was comparable between the en bloc and separate graft cohorts (14.3 vs 19.6%, P = .52). Diabetics and those who underwent an elephant trunk procedure were at a higher risk for reintervention. CONCLUSIONS: The separate graft technique, which is more common today, showed no difference from the en bloc technique with regard to hospital mortality and morbidity. Furthermore, the late survival and reintervention rates were similar after both procedures.


Asunto(s)
Aorta Torácica/cirugía , Implantación de Prótesis Vascular/métodos , Anciano , Implantación de Prótesis Vascular/efectos adversos , Implantación de Prótesis Vascular/mortalidad , Puente Cardiopulmonar , Constricción , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tempo Operativo , Factores de Riesgo , Tasa de Supervivencia , Factores de Tiempo
10.
Eur Radiol ; 28(5): 2159-2168, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29234912

RESUMEN

OBJECTIVES: Multidetector CT (MDCT) is a valuable tool for functional prosthetic heart valve (PHV) assessment. However, radiation exposure remains a concern. We assessed a novel CT-acquisition protocol for comprehensive PHV evaluation at limited dose. METHODS: Patients with a PHV were scanned using a third-generation dual-source CT scanner (DSCT) and iterative reconstruction technique (IR). Three acquisitions were obtained: a non-enhanced scan; a contrast-enhanced, ECG-triggered, arterial CT angiography (CTA) scan with reconstructions at each 5 % of the R-R interval; and a delayed high-pitch CTA of the entire chest. Image quality was scored on a five-point scale. Radiation dose was obtained from the reported CT dose index (CTDI) and dose length product (DLP). RESULTS: We analysed 43 CT examinations. Mean image quality score was 4.1±1.4, 4.7±0.5 and 4.2±0.6 for the non-contrast-enhanced, arterial and delayed acquisitions, respectively, with a total mean image quality of 4.3±0.7. Mean image quality for leaflet motion was 3.9±1.4. Mean DLP was 28.2±17.1, 457.3±168.6 and 68.5±47.2 mGy.cm for the non-contrast-enhanced (n=40), arterial (n=43) and delayed acquisition (n=43), respectively. The mean total DLP was 569±208 mGy.cm and mean total radiation dose was 8.3±3.0 mSv (n=43). CONCLUSION: Comprehensive assessment of PHVs is possible using DSCT and IR at moderate radiation dose. KEY POINTS: • Prosthetic heart valve dysfunction is a potentially life-threatening condition. • Dual-source CT can adequately assess valve leaflet motion and anatomy. • We assessed a comprehensive protocol with three acquisitions for PHV evaluation. • This protocol is associated with good image quality and limited dose.


Asunto(s)
Prótesis Valvulares Cardíacas , Válvulas Cardíacas/diagnóstico por imagen , Tomografía Computarizada Multidetector/métodos , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dosis de Radiación
11.
Thorac Cardiovasc Surg ; 65(6): 467-470, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27685438

RESUMEN

Minimally invasive video-assisted epicardial beating heart ablation for lone atrial fibrillation claims to be safe and effective. We, however, report on three patients with an atrioesophageal fistula after this procedure. The exact pathogenesis of this complication is unknown. All patients presented around 6 weeks after surgery with either fever or neurological deficits. Diagnosis can be made by computed tomography scan. We advocate an aggressive surgical approach with closure of the atrial defect on cardiopulmonary bypass and closure and reinforcement of the esophagus with an intercostal muscle flap in a single-stage surgery. Some caution as to the low-risk character of this procedure seems to be realistic.


Asunto(s)
Técnicas de Ablación/efectos adversos , Fibrilación Atrial/cirugía , Fístula Esofágica/etiología , Fístula/etiología , Cardiopatías/etiología , Pericardio/cirugía , Cirugía Torácica Asistida por Video/efectos adversos , Anciano , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/fisiopatología , Fístula Esofágica/diagnóstico por imagen , Fístula Esofágica/cirugía , Resultado Fatal , Femenino , Fístula/diagnóstico por imagen , Fístula/cirugía , Cardiopatías/diagnóstico por imagen , Cardiopatías/cirugía , Humanos , Masculino , Pericardio/fisiopatología , Reoperación , Factores de Tiempo , Tomografía Computarizada por Rayos X
12.
J Heart Valve Dis ; 25(6): 745-748, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-28290176

RESUMEN

The present case exemplified the detrimental traits of prosthetic valve endocarditis caused by Propionibacterium acnes. As a baby, the patient had a congenital cardiac defect with truncus arteriosus type I with interrupted aortic arch and open ductus Botalli, and had undergone several operations. However, at 18 months after a Bentall procedure performed 29 years later he presented with major prosthetic dehiscence due to endocarditis. The patient underwent a high-risk reoperation for a re-do Bentall procedure and was treated postoperatively with intravenous antibiotics consisting of vancomycin for five weeks and penicillin and rifampicin each for six weeks. He was discharged from hospital in good clinical condition. In conclusion, P. acnes-mediated endocarditis of a prosthetic valve can be successfully treated with prompt surgery and antibiotic therapy.


Asunto(s)
Endocarditis Bacteriana/tratamiento farmacológico , Endocarditis Bacteriana/cirugía , Infecciones por Bacterias Grampositivas/tratamiento farmacológico , Infecciones por Bacterias Grampositivas/cirugía , Complicaciones Posoperatorias , Propionibacterium acnes , Infecciones Relacionadas con Prótesis/tratamiento farmacológico , Infecciones Relacionadas con Prótesis/cirugía , Adulto , Antibacterianos/uso terapéutico , Endocarditis Bacteriana/complicaciones , Infecciones por Bacterias Grampositivas/complicaciones , Cardiopatías Congénitas/complicaciones , Humanos , Masculino , Infecciones Relacionadas con Prótesis/complicaciones , Reoperación
13.
ASAIO J ; 2024 Apr 09.
Artículo en Inglés | MEDLINE | ID: mdl-38595102

RESUMEN

This study aimed to explore the potential impact of the angular position of the outflow graft on thromboembolic events and aortic valve regurgitation in people with a left ventricular assist device (LVAD). We analyzed contrast computed tomography (CT) data of patients with LVAD implantation between 2016 and 2021. Three-dimensional reconstructions of the outflow graft and aortic arch were performed to calculate the horizontal (azimuth) angle and vertical (polar) angle, as well as the relative distance between the outflow graft, aortic valve, and brachiocephalic artery. Among 59 patients (median age 57, 68% male), a vertical angle ≥107° correlated significantly with increased cerebrovascular accidents (hazard ratio [HR]: 5.8, 95% confidence interval [CI]: 1.3-26.3, p = 0.022) and gastrointestinal bleeding (HR: 3.4, 95% CI: 1.0-11.2, p = 0.049) during a median 25 month follow-up. No significant differences were found between the vertical angle and aortic valve regurgitation or survival. The horizontal angle and relative distance did not show differences regarding clinical adverse events. This study emphasizes the importance of the LVAD outflow graft angular position to prevent life-threatening thromboembolic events. This study suggests the need for prospective research to further validate these findings.

14.
J Cardiovasc Med (Hagerstown) ; 25(1): 44-50, 2024 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-38079280

RESUMEN

AIMS: This retrospective study investigated the association between anatomical variations in the aortic arch branching and adverse events, including the risk of cerebrovascular accidents (CVAs), in patients with a left ventricular assist device (LVAD). METHODS: Medical charts were reviewed for all patients with HeartMate 3 LVAD support at our center from 2016 to 2021. Computed tomography scans were evaluated to categorize the variations in the aortic arch branching based on seven different types, as described in the literature. RESULTS: In total, 101 patients were included: 86 (85.1%) with a normal branching pattern and 15 (14.9%) with an anatomical variation. The following variations were observed: eight (7.9%) with a bovine arch and seven (6.9%) with a left vertebral arch. The median age was 57 years, 77.2% were men, and the median follow-up was 25 months. No difference was found in the rate of early (< 30 days) re-exploration due to bleeding after LVAD implantation. The rate of CVA and mortality did not differ significantly between patients with a normal arch or an anatomical variation during follow-up, with hazard ratios of 1.47 [95% confidence interval (CI): 0.48-4.48; P = 0.495] and 0.69 (95% CI: 0.24-1.98; P = 0.489), respectively. CONCLUSION: This preliminary study showed no differences in early and long-term adverse events, including CVA, when comparing patients with a variation in the aortic arch branching to patients with a normal aortic arch. However, knowledge of the variations in aortic arch branching could be meaningful during cardiac surgery for potential differences in surgical events in the perioperative period.


Asunto(s)
Corazón Auxiliar , Accidente Cerebrovascular , Masculino , Humanos , Persona de Mediana Edad , Femenino , Estudios Retrospectivos , Aorta Torácica/diagnóstico por imagen , Corazón Auxiliar/efectos adversos , Tomografía Computarizada por Rayos X , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología
15.
Cardiovasc Res ; 2024 Apr 18.
Artículo en Inglés | MEDLINE | ID: mdl-38636100

RESUMEN

AIM: Aortic aneurysms (AA) frequently involve dysregulation of transforming growth factor ß (TGF-ß)-signaling in the aorta. Here, FURIN was tested as aneurysm predisposition gene given its role as proprotein convertase in pro-TGF-ß maturation. METHODS AND RESULTS: Rare FURIN variants were detected by whole-exome sequencing of 781 unrelated aortic aneurysm patients and affected relatives. Thirteen rare heterozygous FURIN variants occurred in 3.7% (29) unrelated index AA patients, of which 72% had multiple aneurysms or a dissection.FURIN maturation and activity of these variants were decreased in vitro. Patient-derived fibroblasts showed decreased pro-TGF-ß processing, phosphorylation of downstream effector SMAD2 and kinases ERK1/2, and steady-state mRNA levels of the TGF-ß-responsive ACTA2 gene. In aortic tissue, collagen and fibrillin fibers were affected. One variant (R745Q), observed in 10 unrelated cases, affected TGF-ß signaling variably, indicating effect modification by individual genetic backgrounds. CONCLUSION: FURIN is a novel, frequent genetic predisposition for abdominal-, thoracic-, and multiple aortic or middle sized artery aneurysms in older patients, by affecting intracellular TGF-ß signaling, depending on individual genetic backgrounds.

16.
J Am Heart Assoc ; 13(1): e029258, 2024 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-38156593

RESUMEN

BACKGROUND: Acute type B aortic dissection is a cardiovascular emergency with considerable mortality and morbidity risk. Male-female differences have been observed in cardiovascular disease; however, literature on type B aortic dissection is scarce. METHODS AND RESULTS: A retrospective cohort study was conducted including all consecutive patients with acute type B aortic dissection between 2007 and 2017 in 4 tertiary hospitals using patient files and questionnaires for late morbidity. In total, 384 patients were included with a follow-up of 6.1 (range, 0.02-14.8) years, of which 41% (n=156) were female. Women presented at an older age than men (67 [interquartile range (IQR), 57-73] versus 62 [IQR, 52-71]; P=0.015). Prior abdominal aortic aneurysm (6% versus 15%; P=0.009), distally extending dissections (71 versus 85%; P=0.001), and clinical malperfusion (18% versus 32%; P=0.002) were less frequently observed in women. Absolute maximal descending aortic diameters were smaller in women (36 [IQR: 33-40] mm versus 39 [IQR, 36-43] mm; P<0.001), while indexed for body surface area diameters were larger in women (20 [IQR, 18-23] mm/m2 versus 19 [IQR, 17-21] mm/m2). No male-female differences were found in treatment choice; however, indications for invasive treatment were different (P<0.001). Early mortality rate was 9.6% in women and 11.8% in men (P=0.60). The 5-year survival was 83% (95% CI, 77-89) for women and 84% (95% CI, 79-89) for men (P=0.90). No male-female differences were observed in late (re)interventions. CONCLUSIONS: No male-female differences were found in management, early or late death, and morbidity in patients presenting with acute type B aortic dissection, despite distinct clinical profiles at presentation. More details on the impact of age and type of intervention are warranted in future studies.


Asunto(s)
Aneurisma de la Aorta Torácica , Disección Aórtica , Implantación de Prótesis Vascular , Procedimientos Endovasculares , Humanos , Masculino , Femenino , Aneurisma de la Aorta Torácica/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Disección Aórtica/epidemiología , Enfermedad Aguda , Factores de Riesgo
17.
J Med Genet ; 49(1): 47-57, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22167769

RESUMEN

BACKGROUND: Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and cutaneous anomalies, and early-onset osteoarthritis. AOS is caused by mutations in the SMAD3 gene. METHODS: A cohort of 393 patients with aneurysms without mutation in FBN1, TGFBR1 and TGFBR2 was screened for mutations in SMAD3. The patients originated from The Netherlands, Belgium, Switzerland and USA. The clinical phenotype in a total of 45 patients from eight different AOS families with eight different SMAD3 mutations is described. In all patients with a SMAD3 mutation, clinical records were reviewed and extensive genetic, cardiovascular and orthopaedic examinations were performed. RESULTS: Five novel SMAD3 mutations (one nonsense, two missense and two frame-shift mutations) were identified in five new AOS families. A follow-up description of the three families with a SMAD3 mutation previously described by the authors was included. In the majority of patients, early-onset joint abnormalities, including osteoarthritis and osteochondritis dissecans, were the initial symptom for which medical advice was sought. Cardiovascular abnormalities were present in almost 90% of patients, and involved mainly aortic aneurysms and dissections. Aneurysms and tortuosity were found in the aorta and other arteries throughout the body, including intracranial arteries. Of the patients who first presented with joint abnormalities, 20% died suddenly from aortic dissection. The presence of mild craniofacial abnormalities including hypertelorism and abnormal uvula may aid the recognition of this syndrome. CONCLUSION: The authors provide further insight into the phenotype of AOS with SMAD3 mutations, and present recommendations for a clinical work-up.


Asunto(s)
Anomalías Múltiples/genética , Aneurisma/genética , Osteoartritis/genética , Proteína smad3/genética , Anomalías Múltiples/diagnóstico por imagen , Adolescente , Adulto , Anciano , Aneurisma/diagnóstico por imagen , Anomalías Cardiovasculares/diagnóstico por imagen , Anomalías Cardiovasculares/genética , Niño , Codón sin Sentido , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Mutación , Osteoartritis/diagnóstico por imagen , Linaje , Fenotipo , Radiografía , Síndrome , Adulto Joven
18.
Eur Heart J ; 33(17): 2213-24, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22730489

RESUMEN

AIMS: The objective of the present study was to report our ongoing prospective cohort of autograft recipients with up to 21 years of follow-up. METHODS AND RESULTS: All consecutive patients (n = 161), operated between 1988 and 2010, were analysed. Mixed-effects models were used to assess changes in echocardiographic measurements (n = 1023) over time in both the autograft and the pulmonary allograft. The mean patient age was 20.9 years (range 0.05-52.7)-66.5% were male. Early mortality was 2.5% (n = 4), and eight additional patients died during a mean follow-up of 11.6 ± 5.7 years (range 0-21.5). Patient survival was 90% [95% confidence interval (CI), 78-95] up to 18 years. During the follow-up, 57 patients required a re-intervention related to the Ross operation. Freedom from autograft reoperation and allograft re-intervention was 51% (95% CI 38-63) and 82% (95% CI 71-89) after 18 years, respectively. No major changes were observed over time in autograft gradient, and allograft gradient and regurgitation. An initial increase of sinotubular junction and aortic anulus diameter was observed in the first 5 years after surgery. The only factor associated with an increased autograft reoperation rate was pre-operative pure aortic regurgitation (AR) (hazard ratio 1.88; 95% CI 1.04-3.39; P= 0.037). CONCLUSION: We observed good late survival in patients undergoing autograft procedure without reinforcement techniques. However, over half of the autografts failed prior to the end of the second decade. The reoperation rate and the results of echocardiographic measurements over time underline the importance of careful monitoring especially in the second decade after the initial autograft operation and in particular in patients with pre-operative AR.


Asunto(s)
Válvula Aórtica/cirugía , Implantación de Prótesis Vascular/métodos , Prótesis Vascular , Enfermedades de las Válvulas Cardíacas/cirugía , Válvula Pulmonar/trasplante , Adolescente , Adulto , Anciano , Implantación de Prótesis Vascular/mortalidad , Femenino , Mortalidad Hospitalaria , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Reoperación/mortalidad , Reoperación/estadística & datos numéricos , Trasplante Autólogo , Trasplante Homólogo , Adulto Joven
19.
Semin Thorac Cardiovasc Surg ; 35(2): 300-308, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35093534

RESUMEN

The aim of this study was to improve insight into male-female differences in patients undergoing ascending aortic aneurysm surgery. Consecutive patients that underwent ascending aortic aneurysm surgery between January 1991-December 2016 were retrospectively analyzed. Patient and procedural characteristics, 30-day mortality, and survival were compared between male and female patients. Multivariable Cox-regression analysis was performed to explore differences in factors associated with long-term mortality. Of 631 included patients, 36% were female patients. They were older (66 (55.9-72.9) vs 56 (44.1-67.3) years, p < 0.001), had a higher logistic EuroSCORE (12 (8-17) vs 8 (5-12), p < 0.001), and underwent concomitant arch surgery more often (74% vs 54%, p < 0.001). Aortic diameter (5.5 (5.0.6.5) vs 5.5 (5.0-6.0) cm, p = 0.025) and Aortic Size Index (3.15 (2.80-3.65) vs 2.70 (2.42-3.00) cm/m2, p < 0.001) were larger in female patients. Early mortality was 0.9% in female patients and 2.0% in male patients (p = 0.51). Adjusted 15-year survival was comparable between male and female patients. Multivariable Cox-regression did not identify an independent association between female sex and mortality. In males a larger aortic diameter (HR1.38 per centimeter increase, 95%-CI 1.03-1.85, p = 0.003) was an independent factor associated with mortality, and in female patients a larger BSA (HR0.08 per 1kg/m2 increase, 95%-CI 0.01-0.49, p = 0.007) was an independent risk-reducing factor. Female patients presented at older age and with more advanced disease. Increased awareness for ascending aortic pathology and timely referral may result in better preoperative profiles in female patients. This may improve outcomes after ascending aortic aneurysm surgery.


Asunto(s)
Aneurisma de la Aorta Ascendente , Aneurisma de la Aorta , Humanos , Masculino , Femenino , Estudios Retrospectivos , Resultado del Tratamiento , Aneurisma de la Aorta/diagnóstico por imagen , Aneurisma de la Aorta/cirugía , Aorta/cirugía , Factores de Riesgo
20.
ASAIO J ; 69(2): e80-e85, 2023 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-36516019

RESUMEN

Mechanical device malfunction remains a known issue in left ventricular assist devices (LVADs). We investigated the incidence of mechanical device malfunction in the HeartMate II and HeartMate 3 LVADs. We conducted a retrospective study of all HeartMate II and HeartMate 3 LVADs implanted in our center. We evaluated major malfunction, potential major malfunction, minor malfunction, and need of device exchange. In total, 163 patients received an LVAD; in 63 (39%) a HeartMate II, and in 100 (61%) a HeartMate 3, median support time of respectively 24.6 months (interquartile range [IQR]: 32.4) and 21.1 months [IQR: 27.2]. Mechanical device malfunction, consisting of both major and potential major malfunction, occurred significantly less in the HeartMate 3 patients with a hazard ratio (HR) of 0.37 (95% confidence interval [CI]: 0.15-0.87, p = 0.022). Major malfunction alone occurred significantly less in HeartMate 3 patients with a HR of 0.18 (95% CI: 0.05-0.66, p = 0.009). HeartMate 3 patients had a significantly decreased hazard of a pump or outflow graft exchange (HR 0.13, 95% CI: 0.08-0.81, p = 0.008). System controller defects occurred significantly less in HM 3 patients ( p = 0.007), but battery-clips defects occurred significantly more in HM 3 patients ( p = 0.039). Major device malfunction including pump or outflow graft exchange occurred significantly less in HeartMate 3 compared to HeartMate II, while minor malfunctions were similar. Periodical assessment of the technical integrity of the device remains necessary during long-term LVAD support.


Asunto(s)
Insuficiencia Cardíaca , Corazón Auxiliar , Humanos , Insuficiencia Cardíaca/cirugía , Estudios Retrospectivos , Corazón Auxiliar/efectos adversos , Incidencia
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